Last Posted: Aug 24, 2017
- High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders
MB Stosser et al, Genetics in Medicine, August 24, 2017
- 5 Things You Should Know About Epilepsy
- Genetic Basis of Sudden Unexpected Death in Epilepsy.
Bagnall Richard D et al. Frontiers in neurology 2017 8348
- Treatable Genetic Metabolic Epilepsies.
Assi Lama et al. Current treatment options in neurology 2017 Sep (9) 30
- Study: Most newborns with epilepsy benefit from genetic testing
Science Mag, August 3, 2017
- Early-Life Epilepsies and the Emerging Role of Genetic Testing
Berg Anne T et al. JAMA pediatrics 2017 Jul
- The role of genetic testing in epilepsy diagnosis and management.
Weber Yvonne G et al. Expert review of molecular diagnostics 2017 Aug 17(8) 739-750
- Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy.
Glauser Tracy A et al. Annals of neurology 2017 Mar 81(3) 444-453
- Barriers to Genetic Testing for Pediatric Medicaid Beneficiaries With Epilepsy.
Kutscher Eric J et al. Pediatric neurology 2017 Apr
- Practices and views of neurologists regarding the use of whole-genome sequencing in clinical settings: a web-based survey.
Jaitovich Groisman Iris et al. European journal of human genetics : EJHG 2017 May
- Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Fry Andrew E et al. BMC medical genetics 2016 Apr 17(1) 34
- The elusive ideal of inclusiveness: lessons from a worldwide survey of neurologists on the ethical issues raised by whole-genome sequencing.
Hurlimann Thierry et al. BMC medical ethics 2017 Apr 18(1) 28
- Study finds genetic basis for drug response in childhood absence epilepsy
NIH Press Release, April 11, 2017
- What do genetic studies tell us about the heritable basis of common epilepsy? Polygenic or complex epilepsy?
Koeleman Bobby P C et al. Neuroscience letters 2017 Mar
- Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.
Perucca Piero et al. Epilepsy research 2017 Feb 1311-8
- Epilepsy-associated genes.
Wang Jie et al. Seizure 2017 Jan 4411-20